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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for GBA (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 2629 Official gene symbol GBA Full name glucosidase, beta, acid Aliases ,GBA1,GCB,GLUC, Gene summary This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq] Location Chromosome: 1   Locus: 1q21 Gene position 155214653 - 155204239  Map Viewer Gene orientation minus Gene size 10415 bp Gene sequence >GBA:complement(39471..49885):Length=10415 CTCTCTCTCTCTCGCTCGCTCTCTCGCTCTCTCGCTCTCTCTCGCTCGCTCTCTCGCTCT CGCTCTCTCTCTCTCTCCGGCTCGCCAGCGACACTTGTTCGTTCAACTTGACCAATGAGA CTTGAGGAAGGGCTCTGAGTCCCGCCTCTGCATGAGTGACCGTCTCTTTTCCAATCCAGG TCCCGCCCCGACTCCCCAGGGCTGCTTTTCTCGCGGCTGCGGGTGGTCGGGCTGCATCCT GCCTTCAGAGTCTTACTGCGCGGGGCCCCAGTCTCCAGTCCCGCCCAGGCGCCTTTGCAG GCTGCGGTGGGATTTCGTTTTGCCTCCGGTTGGGGCTGCTGTTTCTCTTCGCCGACGGTA GGCGTAATGAATATTTCGACCTTTGGATCTTAGCTGTCCCCTCCCTGCGTTCGCACTTAA CCTTTTTCACCATTATTATTATTATTGTTATTATTATTATTTTTTGAGGGAGTCTCGCCC TGTCGCCCAGGCTGGAGTGTAATGGCGCCTTCTTGGCTCACTGCAACCTCCGCCTCCCGG GTTCAGGCGATTCTCCGACCTCAGCCTCCCAAGTACGTGGGATTACAGGCACCCGCCACC ACGCACGGCTAATTTTTTGTATCTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGC TGGTCTCCAATTCCTGACCTCGTGATCCGCCCGCCTCGGCCTGCCAAACAGCTGTGATTA TAGGCGTGAGCCACCGCGCCCGGCCAACCATCATTATTATTTTTAACGGTAAGGATGGTC AGATTTTACTAATGAAGAAGAGATTATAAAATCTTCAAGTCTTTATATCCACTTGCTTTT TGAGGGGTGGAGTGGGAAGAAGGTTATGTAATTCATACGTTCTTCAGACATGTGACAAAC ATTCACGGAGCCCGGCGACGAGCGTCGGGGTTGGGATTCGCACTGGAGCTGCAGATGGGT GCCAGGATGGACTGGTCCCTACCCTCCGCTTGAACCTAGGAGGCGGAGGTTGCAGTGAAC CGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGATACTCCGTCTCAAAAAAAAAA ACAAAACAAAAAACAAGCGGACTGGGCGCAGTGCCTCACCCTGTAATCCCAGCACTTTGC AAAGCCAAGGCGGGAGGATCCTTTGAGTTTAGGAGTTTGAGACCAACCTGCGCAACACAG TAAGACCCCGTCTCTACAAAAAATACAGAAATTAGCCAGGTGTGGTGGTGTGCGCCTATA GTCCCAGCTATTCTGGAGGCTGAGGTGGGAGGATTGCTTATTCTGGAGGCAGAGGTTGCA CTGAGCCGAAATCAAGCTACTACACTCCATCCAGGGCAACATACGGAGACCCTGTCTCAA ACAAACAAACAAAAAATTGCTCAGTACCTGGCCAAAAAAGAAGAGGCTCACTATGCAGAG GGGAAGTGGAAGGAGATGTTTGGACTTCTAAACTCAATAGAGCAGGAGAGGCAAATGTAG AATGTGCTCAGGAAATATCTGTGAGATGAATGAACTTGAGGGAAGTAAGGTACTAGATAT TACCTGCCCTACCCAGAACAAATCCTGTGCAATGTTTCCTTGAAAAGTGAGAAGTCTGGA AGGGGTGGCTACTGACATAGTGAAGCAACTAGTTCAATTCTACAACTTGACAGCTACCCC TGTGCCAGGCTATCTACGAGGATACTTAGAATGCATAAGACATTCCTTCAAGGAACTCCA GGAACAGAGGCCTGACATGTTGCAATGTTTAGTGTCAAGCAGTGTACTAGAGACACATTA TCACACTCAAACCTCACAACAATTCTGTGAGGTAGGAGTTATCACTCCCCTTTTATAGAT GAAACAGAGGCTTAGAGTGATTGATTTATTGAAAGTCAAACAGCCAGTAAATGGTGTAGC CAGGATTCCAAACTTGCTGTCTCACTGAGACTGTACTTAATTACTGGAGGGACCGGGTGT GGTGGCTCATTGCTATAATCCCAACACCTTGGGAGGCTGAGGCTGGTGGATCACCTGAGG TCAGGGGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAA AAATTAGCTGGGCATGGTGGTGGGCTCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAG GGCAATTGCTTGAGCCGAGATCACACTGCACTCCAGCCTGGGCAACAGGGCAAGACTCTG TCTCAAAACCAAAAAAAAAAAAATTACTGGAGGAACCTAGAAGAAGAAATGATCAATTTT GCTTGGAGTGTATCTAGAAAGACTTCACTGAGATCATTTAAAGAACAAAAAGGATGGCTG GGGTCCAGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTCGGATACCAAGGCAGCAGA TCACCTGAGGTCCAGAGTTTCAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACT AAAAATAAAAAAATTAGCTGAGCATGTTGGAGGGCACCTGTAATCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATCACTCGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACG CCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAACAACAACAACAA AAAATACAAACAAGAGACAAGTAGTTCCCAGGTGCCTACCAAGTGGTCAGGCACTGCACT TACCTCACTGACTGCAGTAACCACCCTTTGAGGTTGTGGCATTGCCTCCATTTTCCAGGC AAGGAAATGGGCTGAGAGCTGGGATTAGTCAGGTCATGACTGTGTGTGCCACTCCCGCTA AATCTCATTTGATGTGGTTCATGAGGCCACACCATGGACAGCTTCCTCCTTGTGTCCACT GAGGATATGGCTTTGTACAACACTTTGGTTTTTGAACGACTTTACAAACCTCCCTGTCTT GTGAGGAAGGAAGAACAGTTATTACCATCTGCATCTGATGATGAAACAAGGGACGCTGCA GAGGAGCCGCACTGACCACTCCCTCCCTCCAGTCCTGTCATCCCACTGCCAGTGTCCCAC CCTCTTGTGCCCTGCACTTCACTGGCTAATAACCCCCCTCACTTTTTCCTCTGTGAAGCC ATCCTGGATAATTCCCCACCCACGAATGGTCCCTCCTCATCTCAGAGAGCTCTCCATGCA CACCTGTTACCGTTTCTGTCTTTATCTGTAAATATCTGTGTGTCTGACTTCCATGCCTCA CACACCTCTATAGGGCAAAGACTGTCTTAAACATCTTGGTAGTGTCAGTATTTTGCACAG TGAAGTTTTTTTTTTTAAATTATATCAGCTTTATTTGTACCTTTTTGACATTTCTATCAA AAAAGAAGTGTGCCTGCTGTGGTTCCCATCCTCTGGGATTTAGGAGCCTCTACCCCATTC TCCATGCAAATCTGTGTTCTAGGCTCTTCCTAAAGTTGTCACCCATACATGCCCTCCAGA GTTTTATAGGGCATATAATCTGTAACAGATGAGAGGAAGCCAATTGCCCTTTAGAAATAT GGCTGTGATTGCCTCACTTCCTGTGTCATGTGACGCTCCTAGTCATCACATGACCCATCC ACATCGGGAAGCCGGAATTACTTGCAGGGCTAACCTAGTGCCTATAGCTAAGGCAGGTAC CTGCATCCTTGTTTTTGTTTAGTGGATCCTCTATCCTTCAGAGACTCTGGAACCCCTGTG GTCTTCTCTTCATCTAATGACCCTGAGGGGATGGAGTTTTCAAGTCCTTCCAGAGAGGTA AGAGAGAGAGCTCCCAATCAGCATTGTCACAGTGCTTCTGGAATCCTGGCACTGGAATTT AATGAATGACAGACTCTCTTTGAATCCAGGGCCATCATGGCTCTTTGAGCAAGGCACAGA TGGAGGGAGGGGTCGAAGTTGAAATGGGTGGGAAGAGTGGTGGGGAGCATCCTGATTTGG GGTGGGCAGAGAGTTGTCATCAGAAGGGTTGCAGGGAGAGCTGCACCCAGGTTTCTGTGG GCCTTGTCCTAATGAATGTGGGAGACCGGGCCATGGGCACCCAAAGGCAGCTAAGCCCTG CCCAGGAGAGTAGTTGAGGGGTGGAGAGGGGCTTGCTTTTCAGTCATTCCTCATTCTGTC CTCAGGAATGTCCCAAGCCTTTGAGTAGGGTAAGCATCATGGCTGGCAGCCTCACAGGAT TGCTTCTACTTCAGGCAGTGTCGTGGGCATCAGGTGAGTGAGTCAAGGCAGTGGGGAGGT AGCACAGAGCCTCCCTTCTGCCTCATAGTCCTTTGGTAGCCTTCCAGTAAGCTGGTGGTA GACTTTTAGTAGGTGCTCAATAAATCCTTTTGAGTGACTGAGACCAACTTTGGGGTGAGG ATTTTGTTTTTTTTCTTTTGAAACAGAGTCTTACTCTGTTGCCTGGGCTGGAGTGCAGTG GTGCAATTTTGGCTCATTCCAACCTCTGCCTCCCAGATTCAAGCGATTCTCTTGCTTCAG CTTCCCAGGTAGCTGGGATTACAGGCGGCCACCACTACGCCCAGCTAATTTTTGTATTTT TAGTAGAGACGGGGTTTCACCATGCTGGCAAGGCAGGTCTCAAACTCCTCACCTCAGGTG ATCCGCCCACCTCGGCCTCCTAAAGTGCTAGGATTACAGGTGTGAGCCCCTGCGCCCGGC CAAGGGGTGAGGAATTTTGAAACCGTGTTCAGTCTCTCCTAGCAGATGTGTCCATTCTCC ATGTCTTCATCAGACCTCACTCTGCTTGTACTCCCTCCCTCCCAGGTGCCCGCCCCTGCA TCCCTAAAAGCTTCGGCTACAGCTCGGTGGTGTGTGTCTGCAATGCCACATACTGTGACT CCTTTGACCCCCCGACCTTTCCTGCCCTTGGTACCTTCAGCCGCTATGAGAGTACACGCA GTGGGCGACGGATGGAGCTGAGTATGGGGCCCATCCAGGCTAATCACACGGGCACAGGTA ACCATTACACCCCTCACCCCCTGGGCCAGGCTGGGTCCTCCTAGAGGTAAATGGTGTCAG TGATCACCATGGAGTTTCCCGCTGGGTACTGATACCCTTATTCCCTGTGGATGTCCTCAG GCCTGCTACTGACCCTGCAGCCAGAACAGAAGTTCCAGAAAGTGAAGGGATTTGGAGGGG CCATGACAGATGCTGCTGCTCTCAACATCCTTGCCCTGTCACCCCCTGCCCAAAATTTGC TACTTAAATCGTACTTCTCTGAAGAAGGTGAGGAGGAAGGGGACAAGATGACATAGAGCC ATTGAAACTTTTCGTTTTTCTTTTCTTTTTTTAAAATTTTTTTGAGGCAGAATCTCACTC TGCCCATTCTGTCGGCGAGACAGGAGTGCAGTGGTGTGATCTCCCCTCACAGCAACCTCT GCCTCCCAGGCTATAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAATTATAGGCG TGCGCCACTACCACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATGTT GACCAGGCTAGTCTTAAACTCCTGACCTCAAATGATATACCTGCCTTGGCCTCCCGAAGT GCTGGAATTACAAGTGTGAGCCACCGAGCCCAGCAGACACTTTTCTTTTTTCTTTTTTTT TTTTTGAGACAGAGTCTCGCACTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCT CACTGCAACCTCCACCTCCCGGGTTCAGGTGATTCTCCTGTCTCAGCCTCTCGAGTACCT GGGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGG GTTTCACTATGTTGGCCAGGATGATTGCGAACTCCTGACCTCGTGATCTGCCCACATCGG CCTCCCAAAGTGCTGGGATTACATGCGTGAGCCACTGACACTTTTCTTTGCCCTTTCTTT GGACCCTGACTTCTGCCCATCCCTGACATTTGGTTCCTGTTTTAATGCCCTGTGAAATAA GATTTCACCGCCTATCATCTGCTAACTGCTACGGACTCAGGCTCAGAAAGGCCTGCGCTT CACCCAGGTGCCAGCCTCCACAGGTTCCAACCCAGGAGCCCAAGTTCCCTTTGGCCCTGA CTCAGACACTATTAGGACTGGCAAGTGATAAGCAGAGTCCCATACTCTCCTATTGACTCG GACTACCATATCTTGATCATCCTTTTCTGTAGGAATCGGATATAACATCATCCGGGTACC CATGGCCAGCTGTGACTTCTCCATCCGCACCTACACCTATGCAGACACCCCTGATGATTT CCAGTTGCACAACTTCAGCCTCCCAGAGGAAGATACCAAGCTCAAGGTAGGCATTCTAGC TTTTTCAGGCCCTGAGGGCCCTGATGTCTGGGGGTTGAGAAACTGTAGGGTAGGTCTGCT TGTACAGACATTTTGTCCCCTGCTGTTTTGTCCTGGGGGTGGGAGGGTGGAGGCTAATGG CTGAACCGGATGCACTGGTTGGGCTAGTATGTGTTCCAACTCTGGGTGCTTCTCTCTTCA CTACCTTTGTCTCTAGATACCCCTGATTCACCGAGCCCTGCAGTTGGCCCAGCGTCCCGT TTCACTCCTTGCCAGCCCCTGGACATCACCCACTTGGCTCAAGACCAATGGAGCGGTGAA TGGGAAGGGGTCACTCAAGGGACAGCCCGGAGACATCTACCACCAGACCTGGGCCAGATA CTTTGTGAAGTAAGGGATCAGCAAGGATGTGGGATCAGGACTGGCCTCCCATTTAGCCAT GCTGATCTGTGTCCCAACCCTCAACCTAGTTCCACTTCCAGATCTGCCTGTCCTCAGCTC ACCTTTCTACCTTCTGGGCCTTTCAGCCTTGGGCCTGTCAATCTTGCCCACTCCATCAGG CTTCCTGTTCTCTCGGTCTGGCCCACTTTCTTTTTATTTTTCTTCTTTTTTTTTTTTTTG AGAAGGAGTCTCTCTCTCTGTCACCCAGGCTGGAGTGCTGTGGCGCCATCTTCACTCACT GTAACCTCTGCCTCCTGAGTTCAAGCAATTCTCCTGCCTCAGCCTTCCAAGTAGCTGGGA TTATAGGCGCCTGCCACCAGGCCCAGCTGATTTTTCTATTTTTAGTAGAGACGGGGTTTC GCCAGGCTGTTCTCGAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCTTCCCAAAGTG CTGGGATTACAGGTGTGAGCCACCACACCCAGCTGGTCTGGTCCACTTTCTTGGCCGGAT CATTCATGACCTTTCTCTTGCCAGGTTCCTGGATGCCTATGCTGAGCACAAGTTACAGTT CTGGGCAGTGACAGCTGAAAATGAGCCTTCTGCTGGGCTGTTGAGTGGATACCCCTTCCA GTGCCTGGGCTTCACCCCTGAACATCAGCGAGACTTCATTGCCCGTGACCTAGGTCCTAC CCTCGCCAACAGTACTCACCACAATGTCCGCCTACTCATGCTGGATGACCAACGCTTGCT GCTGCCCCACTGGGCAAAGGTGGTAAGGCCTGGACCTCCATGGTGCTCCAGTGACCTTCA AATCCAGCATCCAAATGACTGGCTCCCAAACTTAGAGCGATTTCTCTACCCAACTATGGA TTCCTAGAGCACCATTCCCCTGGACCTCCAGGGTGCCATGGATCCCACAGTTGTCGCTTG AAACCTTTCTAGGGGCTGGGCGAGGTGGCTCACTCATGCAAACCCAGCACTTTGGGAAGC CGAGGCGGGTGATCACCTGAGGTCAGGAGTTTAAGACCACCCTGGCCAACGTGTTGAAAC CCTGTGTCTACTAAAATACAAAAAAAAAAAATTATCTGGGCATGATGGTGGGTGTCTGTA ATCCCAGCTACTCAGGAGGCTGAGAAGGGAGAATCAGTTGAACCCGGGAGATGGTGGTTG CGGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGAGGCTGAGCGAGACTCCATCTC GAAACAAAACAAAACAAAACTATCTAGGCTGGGGGTGGTGGTTCATGTATGTATGTGTAT ATACATATATATGTGTTTATATGTATATATATATACACACACACACATACATACACACAC ATACACACACAAATTAGCTGGGTGTGGCACCCGTGTAGTCCCAGCTACTCAGGAGGCTAA TGTGGGAGGATCAGTTGACCCTAGGAAGTCAAGGCTGCAGTGAGTCGTGATTGCGCCACT GTACTCCAGCCCGAGTGACAGAGTGACATCCTGTCTCAAAAACAAAAAAAAATCTCCCCA AACCTCTCTAGTTGCATTCTTCCCGTCACCCAACTCCAGGATTCCTACAACAGGAACTAG AAGTTCCAGAAGCCTGTGTGCAAGGTCCAGGATCAGTTGCTCTTCCTTTGCAGGTACTGA CAGACCCAGAAGCAGCTAAATATGTTCATGGCATTGCTGTACATTGGTACCTGGACTTTC TGGCTCCAGCCAAAGCCACCCTAGGGGAGACACACCGCCTGTTCCCCAACACCATGCTCT TTGCCTCAGAGGCCTGTGTGGGCTCCAAGTTCTGGGAGCAGAGTGTGCGGCTAGGCTCCT GGGATCGAGGGATGCAGTACAGCCACAGCATCATCACGGTAAGCCACCCCAGTCTCCCTT CCTGCAAAGCAGACCTCAGACCTCTTACTAGTTTCACCAAAGACTGACAGAAGCCCTTCC TGTCCAGCTTTCCCCAGCTAGCCTGCCCTTTTGAGCAACTCTGGGGAACCATGATTCCCT ATCTTCCCTTTCCTTCACAGGTCTGCACACCTCATTGCCCCTTTTGCAACTACTGAGGCA CTTGCAGCTGCCTCAGACTTCTCAGCTCCCCTTGAGATGCCTGGATCTTCACACCCCCAA CTCCTTAGCTACTAAGGAATGTGCCCCTCACAGGGCTGACCTACCCACAGCTGCCTCTCC CACATGTGACCCTTACCTACACTCTCTGGGGACCCCCAGTGTTGCGCCTTTGTCTCTTTG CCTTTGTCCTTACCCTAGAACCTCCTGTACCATGTGGTCGGCTGGACCGACTGGAACCTT GCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGTCCCATCATT GTAGACATCACCAAGGACACGTTTTACAAACAGCCCATGTTCTACCACCTTGGCCACTTC AGGTGAGTGGAGGGCGGGCACCCCCATTCCATACCAGGCCTATCATCTCCTACATCGGAT GGCTTACATCACTCTACACCACGAGGGAGCAGGAAGGTGTTCAGGGTGGAACCTCGGAAG AGGCACACCCATCCCCTTTTGCACCATGGAGGCAGGAAGTGACTAGGTAGCAACAGAAAA CCCCAATGCCTGAGGCTGGACTGCGATGCAGAAAAGCAGGGTCAGTGCCCAGCAGCATGG CTCCAGGCCTAGAGAGCCAGGGCAGAGCCTCTGCAGGAGTTATGGGGTGGGTCCGTGGGT GGGTGACTTCTTAGATGAGGGTTTCATGGGAGGTACCCCGAGGGACTCTGACCATCTGTT CCCACATTCAGCAAGTTCATTCCTGAGGGCTCCCAGAGAGTGGGGCTGGTTGCCAGTCAG AAGAACGACCTGGACGCAGTGGCACTGATGCATCCCGATGGCTCTGCTGTTGTGGTCGTG CTAAACCGGTGAGGGCAATGGTGAGGTCTGGGAAGTGGGCTGAAGACAGCGTTGGGGGCC TTGGCAGGATCACACTCTCAGCTTCTCCTCCCTGCTCCCTAGCTCCTCTAAGGATGTGCC TCTTACCATCAAGGATCCTGCTGTGGGCTTCCTGGAGACAATCTCACCTGGCTACTCCAT TCACACCTACCTGTGGTGTCGCCAGTGATGGAGCAGATACTCAAGGAGGCACTGGGCTCA GCCTGGGCATTAAAGGGACAGAGTCAGCTCACACGCTGTCTGTGACTAAAGAGGGCACAG CAGGGCCAGTGTGAGCTTACAGCGACGTAAGCCCAGGGGCAATGGTTTGGGTGACTCACT TTCCCCTCTAGGTGGTGCCAGGGGCTGGAGGCCCCTAGAAAAAGATCAGTAAGCCCCAGT GTCCCCCCAGCCCCCATGCTTATGTGAACATGCGCTGTGTGCTGCTTGCTTTGGAAACTG GGCCTGGGTCCAGGCCTAGGGTGAGCTCACTGTCCGTACAAACACAAGATCAGGGCTGAG GGTAAGGAAAAGAAGAGACTAGGAAAGCTGGGCCCAAAACTGGAGACTGTTTGTCTTTCC TGGAGATGCAGAACTGGGCCCGTGGAGCAGCAGTGTCAGCATCAGGGCGGAAGCCTTAAA GCAGCAGCGGGTGTGCCCAGGCACCCAGATGATTCCTATGGCACCAGCCAGGAAAAATGG CAGCTCTTAAAGGAGAAAATGTTTGAGCCCAGTCA OMIM ID 606463